Linked Data
ClinVar Variation Id:
305821
dbSNP Id:
rs144775787
ExAC:
11:67818050 C / T
gnomAD v2:
11-67818050-C-T
gnomAD v3:
11-68050583-C-T
gnomAD v4:
11-68050583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68050583C>T , CM000673.2:g.68050583C>T | GRCh38 |
| NC_000011.9:g.67818050C>T , CM000673.1:g.67818050C>T | GRCh37 |
| NC_000011.8:g.67574626C>T | NCBI36 |
| NG_007878.1:g.16568C>T , LRG_115:g.16568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.1558C>T | ||
| ENST00000698254.1:c.1862C>T | ENSP00000513629.1:p.Ala621Val | |
| ENST00000698255.1:c.2282C>T | ENSP00000513630.1:p.Ala761Val | |
| ENST00000698257.1:n.1751C>T | ||
| ENST00000698258.1:n.1468C>T | ||
| ENST00000698259.1:n.1602C>T | ||
| ENST00000265686.8:c.2333C>T MANE Select | ENSP00000265686.3:p.Ala778Val | |
| ENST00000265686.7:c.2333C>T | ENSP00000265686.3:p.Ala778Val | |
| ENST00000525724.5:n.1645C>T | ||
| ENST00000530063.1:c.140-158C>T | ENSP00000432957.1:n.140-158C>T | |
| ENST00000530449.1:n.461C>T | ||
| ENST00000530802.1:n.143-158C>T | ||
| ENST00000532635.5:c.1685C>T | ENSP00000434407.1:p.Ala562Val | |
| ENST00000533005.5:n.1446C>T | ||
| NM_006019.3:c.2333C>T | NP_006010.2:p.Ala778Val | |
| NM_006053.3:c.1685C>T | NP_006044.1:p.Ala562Val | |
| XM_005273709.2:c.2333C>T | XP_005273766.1:p.Ala778Val | |
| XM_011544726.1:c.2333C>T | XP_011543028.1:p.Ala778Val | |
| XM_011544727.1:c.2237-158C>T | XP_011543029.1:n.2237-158C>T | |
| XR_949754.1:n.2480C>T | ||
| NM_001351059.1:c.1439C>T | NP_001337988.1:p.Ala480Val | |
| XM_024448320.1:c.2426C>T | XP_024304088.1:p.Ala809Val | |
| XM_024448321.1:c.2426C>T | XP_024304089.1:p.Ala809Val | |
| XM_024448322.1:c.2426C>T | XP_024304090.1:p.Ala809Val | |
| XM_024448323.1:c.2426C>T | XP_024304091.1:p.Ala809Val | |
| XR_001747721.2:n.2502C>T | ||
| XR_001747722.1:n.2470C>T | ||
| XR_001747723.2:n.2515C>T | ||
| XR_002957115.1:n.2691C>T | ||
| NM_006019.4:c.2333C>T MANE Select | NP_006010.2:p.Ala778Val | |
| NM_001351059.2:c.1439C>T | NP_001337988.1:p.Ala480Val | |
| NM_006053.4:c.1685C>T | NP_006044.1:p.Ala562Val |